Maturity-Onset Diabetes of the Young NGS Panel

Synonyms

  • LAB4200
  • MATURITY-ONSET DIABETES OF THE YOUNG
  • MODY

Cerner Name

Maturity-Onset Diabetes of the Young

Clinical Info

Conditions
Maturity-Onset Diabetes of the Young (MODY)
Permanent Neonatal Diabetes (PND)
Clinical Utility
Molecular confirmation of a clinical diagnosis
To assist with decisions about treatment and management of individuals with MODY
Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

2-5 mL Blood - Lavender Top Tube

Container

Lavender Top Tube or Buccal (Oral Cheek Swab)

Collection Instructions

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Next-Gen Sequencing
Deletion/Duplication Analysis

Days Performed

Performing Laboratories

GeneDx

CPT

81403x1, 81404x2, 81405x2, 81406x3, 81407x1, 81479x3

PDM

245347

Results
Component Name Base Name Common Name External Name
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) PANEL MODY MODY PANEL Maturity-Onset Diabetes of the Young (MODY) Panel

Result Interpretation

Genes

ABCC8, APPL1, BLK, CEL, GCK, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, RFX6, WFS1

Forms
edit
Workgroup: Molecular-Send Outs
Procedure Master Number: LAB4200
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